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rs386834033

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386834033(G;T)
Make rs386834033(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position46194866
GenePOMGNT1
is asnp
is mentioned by
dbSNPrs386834033
ebirs386834033
HLIrs386834033
Exacrs386834033
Varsomers386834033
Maprs386834033
PheGenIrs386834033
hapmaprs386834033
1000 genomesrs386834033
hgdprs386834033
ensemblrs386834033
gopubmedrs386834033
geneviewrs386834033
scholarrs386834033
googlers386834033
pharmgkbrs386834033
gwascentralrs386834033
openSNPrs386834033
23andMers386834033
23andMe allrs386834033
SNP Nexus

SNPshotrs386834033
SNPdbers386834033
MSV3drs386834033
GWAS Ctlgrs386834033
Max Magnitude0
ClinVar
Risk rs386834033(T;T)
Alt rs386834033(T;T)
Reference rs386834033(G;G)
Significance Probable-Pathogenic
Disease Muscle eye brain disease
Variation info
Gene POMGNT1
CLNDBN Muscle eye brain disease
Reversed 1
HGVS NC_000001.10:g.46660538C>A
CLNSRC ClinVar
CLNACC RCV000050016.1,


[PMID 17559086] Molecular heterogeneity in fetal forms of type II lissencephaly.